970 results match your criteria Erythropoietic Protoporphyria


Erythropoietic protoporphyria: pitfalls and proposed solutions for patient communication about the disease, a survey of parents and adult patients.

Authors:
Amy Dickey

J Am Acad Dermatol 2019 Apr 9. Epub 2019 Apr 9.

Department of Medicine, Massachusetts General Hospital, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2019.04.010DOI Listing

Erythropoietic Protoporphyria in a Japanese Population.

Acta Derm Venereol 2019 Apr 2. Epub 2019 Apr 2.

Department of Dermatology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, 930-0194, Toyama, Japan.

Erythropoietic protoporphyria is caused by a partial deficiency of ferrochelatase, which is the last enzyme in the heme biosynthesis pathway. In a typical erythropoietic protoporphyria, photosensitivity initially appears, following the first exposure to the sun in early infancy or childhood. Erythropoietic protoporphyria has been reported worldwide, but there is a regional variation in its epidemiology. Read More

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http://dx.doi.org/10.2340/00015555-3184DOI Listing
April 2019
1 Read

Warfarin ineffective as symptomatic therapy for erythropoietic protoporphyria.

Australas J Dermatol 2019 Mar 27. Epub 2019 Mar 27.

Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ajd.13033DOI Listing
March 2019
1 Read

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

Brain 2019 Mar 26. Epub 2019 Mar 26.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Disruption of cellular iron homeostasis can contribute to neurodegeneration. In mammals, two iron-regulatory proteins (IRPs) shape the expression of the iron metabolism proteome. Targeted deletion of Ireb2 in a mouse model causes profoundly disordered iron metabolism, leading to functional iron deficiency, anemia, erythropoietic protoporphyria, and a neurodegenerative movement disorder. Read More

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http://dx.doi.org/10.1093/brain/awz072DOI Listing
March 2019
5 Reads

Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report.

World J Gastroenterol 2019 Feb;25(7):880-887

Department of Infectious Diseases, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing 400038, China.

Background: Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the gene. EPP combined with liver injury is even rarer. Read More

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http://dx.doi.org/10.3748/wjg.v25.i7.880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385011PMC
February 2019
3 Reads

An Unusual Case of Erythropoietic Protoporphyria Mimicking Lipoid Proteinosis.

Indian J Dermatol 2019 Jan-Feb;64(1):74-75

Private Dermatologist, Dr V.K Jain Skin Care Center, Rohtak, Haryana, India.

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http://dx.doi.org/10.4103/ijd.IJD_441_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340227PMC
February 2019
1 Read

Feasibility of cellular bioenergetics as a biomarker in porphyria patients.

Mol Genet Metab Rep 2019 Jun 29;19:100451. Epub 2019 Jan 29.

Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States.

Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress. Recently, it has become possible to measure mitochondrial function from cells isolated from peripheral blood (cellular bioenergetics) using the XF96 analyzer (). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183014
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http://dx.doi.org/10.1016/j.ymgmr.2019.100451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355507PMC
June 2019
11 Reads

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Mol Genet Metab 2019 Jan 18. Epub 2019 Jan 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Mouse models of the human porphyrias have proven useful for investigations of disease pathogenesis and to facilitate the development of new therapeutic approaches. To date, mouse models have been generated for all major porphyrias, with the exception of X-linked protoporphyria (XLP) and the ultra rare 5-aminolevulinic acid dehydratase deficient porphyria (ADP). Mouse models have been generated for the three autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
January 2019
6 Reads

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.

Am J Hum Genet 2019 Feb 31;104(2):341-347. Epub 2019 Jan 31.

Centre de Recherches sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale U1149, 75018 Paris, France; Université Paris Diderot, 75018 Paris, France; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, 178 rue des Renouillers, 92701 Colombes, France; Laboratory of Excellence GR-Ex, 75015 Paris, France. Electronic address:

Erythropoietic protoporphyria (EPP) is a hereditary disease characterized by a deficiency in ferrochelatase (FECH) activity. FECH activity is responsible for the accumulation of protoporphyrin IX (PPIX). Without etiopathogenic treatment, EPP manifests as severe photosensitivity. Read More

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http://dx.doi.org/10.1016/j.ajhg.2018.12.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369449PMC
February 2019
9 Reads

Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study.

Mol Genet Metab 2019 Jan 26. Epub 2019 Jan 26.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses, generally presenting in childhood with severe and painful phototoxicity. EPP has been reported to negatively affect quality of life (QoL), but there is limited information on the psychosocial issues faced by patients and families. To address this, an online focus group study was conducted to explore the perspective of parents of children with EPP, and young adults and children with EPP. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.023DOI Listing
January 2019
2 Reads

[The cutaneous porphyrias].

Authors:
J-F Cuny

Ann Dermatol Venereol 2019 Feb 30;146(2):143-159. Epub 2019 Jan 30.

Service de dermatologie, CHR Metz-Thionville, 1, allée du Château, CS 45001, 57085 Metz cedex 03, France. Electronic address:

The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183134
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http://dx.doi.org/10.1016/j.annder.2018.12.005DOI Listing
February 2019
4 Reads

Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Authors:
Manisha Balwani

Mol Genet Metab 2019 Jan 24. Epub 2019 Jan 24.

Department of Genetics and Genomic Sciences and Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. EPP results from the partial deficiency of ferrochelatase, and XLP results from gain-of-function mutations in erythroid specific ALAS2. Both disorders result in the accumulation of erythrocyte protoporphyrin, which is released in the plasma and taken up by the liver and vascular endothelium. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183064
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http://dx.doi.org/10.1016/j.ymgme.2019.01.020DOI Listing
January 2019
5 Reads

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Mol Med 2019 01 24;25(1). Epub 2019 Jan 24.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai New York, New York, 10029, USA.

Background: X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2). Five ALAS2 exon 11 variants identified by the NHBLI Exome sequencing project (p. Read More

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http://dx.doi.org/10.1186/s10020-019-0070-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344999PMC
January 2019
3 Reads
4.508 Impact Factor

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Mol Genet Metab 2019 Jan 7. Epub 2019 Jan 7.

INSERM U1149, Centre de Recherche sur l'inflammation (CRI), Paris, France; Université Paris Diderot, site Bichat, Sorbonne Paris cité, DHU UNITY, Paris, France; Laboratory of excellence GR-Ex, Paris, France. Electronic address:

Non-syndromic microcytic congenital sideroblastic anemia (cSA) is predominantly caused by defective genes encoding for either ALAS2, the first enzyme of heme biosynthesis pathway or SLC25A38, the mitochondrial importer of glycine, an ALAS2 substrate. Herein we explored a new case of cSA with two mutations in GLRX5, a gene for which only two patients have been reported so far. The patient was a young female with biallelic compound heterozygous mutations in GLRX5 (p. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.12.012DOI Listing
January 2019
5 Reads
2.625 Impact Factor

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Mol Genet Metab 2018 Nov 30. Epub 2018 Nov 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine heme biosynthetic genes. The major sites of heme biosynthesis are the liver and erythron, and the underlying pathophysiology of each of these disorders depends on the unique biochemistry, cell biology, and genetic mechanisms in these tissues. The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and 5-Aminolevlulinic Acid Dehydratase Deficient Porphyria (ADP); 2) a hepatic cutaneous porphyria, Porphyria Cutanea Tarda (PCT); and 3) the cutaneous erythropoietic porphyrias, Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-Linked Protoporphyria (XLP). Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.11.012DOI Listing
November 2018
7 Reads

Afamelanotide in the Treatment of Dermatologic Disease

Skin Therapy Lett 2018 11;23(6):6-10

Department of Dermatology, Henry Ford Hospital, Detroit, MI, USA

Afamelanotide, an α-melanocyte stimulating hormone analogue, has become an emerging therapeutic option for a variety of skin conditions previously refractory to other treatments. Its efficacy has been demonstrated in several dermatologic conditions, including erythropoietic protoporphyria (EPP), solar urticaria, polymorphic light eruption (PMLE), vitiligo, acne, and Hailey-Hailey disease. Its relatively low risk side effect profile makes it an attractive treatment option and also paves the way for innovative use in other disorders. Read More

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November 2018
7 Reads

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Mol Genet Metab 2018 Aug 31. Epub 2018 Aug 31.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

The erythropoietic porphyrias are inborn errors of heme biosynthesis with prominent cutaneous manifestations. They include autosomal recessive Congenital Erythropoietic Porphyria (CEP) due to loss-of-function (LOF) mutations in the Uroporphyrinogen III Synthase (UROS) gene, Erythropoietic Protoporphyria (EPP) due to LOF mutations in the ferrochelatase (FECH) gene, and X-Linked Protoporphyria (XLP) due to gain-of-function mutations in the terminal exon of the Aminolevulinic Acid Synthase 2 (ALAS2) gene. During the 11-year period from 01/01/2007 through 12/31/2017, the Mount Sinai Porphyrias Diagnostic Laboratory provided molecular diagnostic testing for one or more of these disorders in 628 individuals, including 413 unrelated individuals. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.08.015DOI Listing
August 2018
16 Reads

[Porphyrias-what is verified?]

Internist (Berl) 2018 Dec;59(12):1239-1248

MVZ Labor PD Dr. Volkmann und Kollegen GbR, 76133, Karlsruhe, Deutschland.

Porphyrias are caused by enzyme defects of heme biosynthesis. According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and erythropoietic porphyrias. Acute hepatic porphyrias, e. Read More

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http://link.springer.com/10.1007/s00108-018-0509-z
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http://dx.doi.org/10.1007/s00108-018-0509-zDOI Listing
December 2018
30 Reads

Porphyrias and photosensitivity: pathophysiology for the clinician.

Postgrad Med 2018 Nov 23;130(8):673-686. Epub 2018 Oct 23.

a Department of Internal Medicine , Nicosia General Hospital, University of Cyprus Medical School , Nicosia , Cyprus.

Porphyrias are disorders caused by defects in the biosynthetic pathway of heme. Their manifestations can be divided into three distinct syndromes, each attributable to the accumulation of three distinct classes of molecules. The acute neurovisceral syndrome is caused by the accumulation of the neurotoxic porphyrin precursors, delta aminolevulinic acid, and porphobilinogen; the syndrome of immediate painful photosensitivity is caused by the lipid-soluble protoporphyrin IX and, the syndrome of delayed blistering photosensitivity, caused by the water-soluble porphyrins, uroporphyrin, and coproporphyrin. Read More

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https://www.tandfonline.com/doi/full/10.1080/00325481.2018.1
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http://dx.doi.org/10.1080/00325481.2018.1533380DOI Listing
November 2018
11 Reads

Erythropoietic protoporphyria: A rare cause of painful hands and feet.

J Paediatr Child Health 2019 Feb 4;55(2):236-238. Epub 2018 Oct 4.

Neurology Department, Perth Children's Hospital, Perth, Western Australia, Australia.

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http://doi.wiley.com/10.1111/jpc.14244
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http://dx.doi.org/10.1111/jpc.14244DOI Listing
February 2019
1 Read

Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy.

Intern Med 2018 1;57(17):2505-2509. Epub 2018 Sep 1.

Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, Japan.

A 27-year-old man bearing an erythropoietic protoporphyria (EPP)-associated ferrochelatase (FECH) mutation was admitted to our hospital for general malaise and marked elevation of the serum levels of hepatobiliary enzymes and bilirubin. Initial treatment with plasma exchange did not reduce the blood protoporphyrin or serum liver enzyme levels, so phlebotomy was started. Surprisingly, weekly phlebotomy normalized the serum levels of liver enzymes, accompanied by a marked reduction in the blood protoporphyrin levels. Read More

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http://dx.doi.org/10.2169/internalmedicine.0673-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172546PMC
November 2018
2 Reads

The role of ClpX in erythropoietic protoporphyria.

Hematol Transfus Cell Ther 2018 Apr-Jun;40(2):182-188. Epub 2018 Mar 28.

Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes encoding heme biosynthesis enzymes are associated with a broad class of metabolic disorders called porphyrias. Read More

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http://dx.doi.org/10.1016/j.htct.2018.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001922PMC
March 2018
4 Reads

Diagnostic Delay in Erythropoietic Protoporphyria.

J Pediatr 2018 11 2;202:320-323.e2. Epub 2018 Jul 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:

Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203604PMC
November 2018
1 Read

Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).

Mol Genet Metab 2018 08 13;124(4):287-296. Epub 2018 Jun 13.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, U.O. Medicina Generale, Italy.

Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.06.005DOI Listing
August 2018
17 Reads

Liver metabolomics in a mouse model of erythropoietic protoporphyria.

Biochem Pharmacol 2018 08 12;154:474-481. Epub 2018 Jun 12.

Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA 15261, USA. Electronic address:

Erythropoietic protoporphyria (EPP) is a genetic disease that results from the defective mutation in the gene encoding ferrochelatase (FECH), the enzyme that converts protoporphyrin IX (PPIX) to heme. Liver injury and even liver failure can occur in EPP patients because of PPIX accumulation in the liver. The current study profiled the liver metabolome in an EPP mouse model caused by a Fech mutation (Fech-mut). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00062952183022
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http://dx.doi.org/10.1016/j.bcp.2018.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310158PMC
August 2018
19 Reads

Hepatobiliary and Pancreatic: A rare cause of decompensated liver cirrhosis.

J Gastroenterol Hepatol 2018 Nov 3;33(11):1820. Epub 2018 Jun 3.

Department of Infectious Diseases, Peking University First Hospital, Beijing, China.

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http://dx.doi.org/10.1111/jgh.14273DOI Listing
November 2018

Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report.

SAGE Open Med Case Rep 2018 23;6:2050313X18772125. Epub 2018 May 23.

Dalhousie University, Halifax Regional Municipality, Canada.

Erythropoietic protoporphyria (EPP) is a genetically inherited disease that causes protoporphyrin accumulation in erythrocytes, skin, liver, bile, and stool. Clinically this manifests as photosensitivity with painful, edematous cutaneous porphyria. We present the case of a four-year-old boy with a delayed photosensitivity reaction to sunlight. Read More

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http://dx.doi.org/10.1177/2050313X18772125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5971381PMC
May 2018
1 Read

Erythropoietic protoporphyria and solar urticaria.

Authors:
P M Farr

Br J Dermatol 2018 Aug 10;179(2):542. Epub 2018 Jun 10.

Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, U.K.

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http://doi.wiley.com/10.1111/bjd.16684
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http://dx.doi.org/10.1111/bjd.16684DOI Listing
August 2018
10 Reads

Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease.

Pediatrics 2018 Apr;141(Suppl 5):S445-S450

Departments of Pathology and Immunology and

The porphyrias are a group of rare metabolic disorders that result from defects in heme biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children and is diagnosed in most individuals after the onset of cutaneous manifestations. Hepatobiliary disease affects the minority of individuals with EPP and usually manifests in patients with an established diagnosis of EPP. Read More

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http://dx.doi.org/10.1542/peds.2016-1625DOI Listing
April 2018
3 Reads

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Med J 2018 04 19;9(2). Epub 2018 Apr 19.

Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Read More

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http://dx.doi.org/10.5041/RMMJ.10333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916231PMC
April 2018
8 Reads

Hair cortisol is elevated in patients with erythropoietic protoporphyria and correlates with body mass index and quality of life.

Br J Dermatol 2018 05 6;178(5):1209-1210. Epub 2018 Apr 6.

Porphyria Center, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/bjd.16341DOI Listing
May 2018
3 Reads

Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.

J Dermatol 2018 Feb 20;45(2):145-149. Epub 2017 Dec 20.

Department of Dermatology, Kindai University Faculty of Medicine, Osaka, Japan.

Erythropoietic protoporphyria is a genetic disease characterized by sensitivity to sunlight caused by the accumulation of protoporphyrin IX. Photoprotection against ultraviolet A and visible light is necessary for erythropoietic porphyria patients because the absorption spectrum of protoporphyrin IX lies in both ultraviolet A and visible light region. We developed a novel index, in vitro porphyrin protection factor, based on the protoporphyrin IX absorbance spectrum. Read More

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http://dx.doi.org/10.1111/1346-8138.14175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814858PMC
February 2018
13 Reads

Menthol reduces phototoxicity pain in a mouse model of photodynamic therapy.

Pain 2018 02;159(2):284-297

Institute of Academic Anaesthesia, Division of Neuroscience, Ninewells Hospital, University of Dundee, Dundee, United Kingdom.

Phototoxicity-induced pain is a major clinical problem triggered by light acting on photosensitising drugs or endogenous porphyrins, notably protoporphyrin IX (PpIX), an intermediary in heme biosynthesis. Protoporphyrin IX accumulates in individuals with erythropoietic protoporphyria and is elevated during photodynamic therapy subsequent to application of 5-aminolevulinic acid (ALA). Pain occurs during irradiation of PpIX and responds poorly to conventional analgesics. Read More

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http://dx.doi.org/10.1097/j.pain.0000000000001096DOI Listing
February 2018
1 Read

An overview of the cutaneous porphyrias.

Authors:
Robert Dawe

F1000Res 2017 30;6:1906. Epub 2017 Oct 30.

Scottish Cutaneous Porphyria Service, Scottish Photodiagnostic Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.

This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. Read More

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http://dx.doi.org/10.12688/f1000research.10101.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664971PMC
October 2017
19 Reads

Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: A case report.

Am J Transplant 2018 Mar 9;18(3):745-749. Epub 2017 Dec 9.

Department of Medicine, Division of Gastroenterology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway resulting in the accumulation of protoporphyrins in the blood, erythrocytes, and other tissues. Because of a gene mutation in the FECH gene, ferrochelatase, the enzyme involved in the final step of heme synthesis, is deficient in these patients. Although the major symptom of this disorder is photosensitivity, rarely, it can cause progressive liver disease requiring liver transplantation (LT). Read More

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http://dx.doi.org/10.1111/ajt.14581DOI Listing
March 2018
27 Reads

Late-onset Erythropoietic Protoporphyria Associated with Myelodysplastic Syndrome Treated with Azacitidine.

Acta Derm Venereol 2018 Feb;98(2):275-277

Division of Dermatology, Department of Internal Medicine, Kobe University Graduate School of Medicine , Kobe University Graduate School of Medicine, 6500017 5-2, Kusunoki-cho7, Chuo-ku, Kobe-shi, Hyougo, Kobe, Japan.

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http://dx.doi.org/10.2340/00015555-2829DOI Listing
February 2018
12 Reads

[Clinicopathologic features of three cases of erythropoietic protoporphyria with liver involvement].

Authors:
J Shi X Q Li Z H Lu

Zhonghua Bing Li Xue Za Zhi 2017 Oct;46(10):704-707

Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.

To investigate the clinicopathologic features of the erythropoietic protoporphyria (EPP) with liver involvement. The clinical findings and hepatic biopsy of 3 cases of EPP diagnosed between July, 2011 to August, 2014 with liver involvement were reviewed, with relevant literature review. All patients presented with persistent and refractory abdominal pain, with obvious jaundice and deranged liver function. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2017.10.009DOI Listing
October 2017
4 Reads

Blastic plasmacytoid dendritic cell neoplasm following acquired erythropoietic protoporphyria.

Proc (Bayl Univ Med Cent) 2017 Oct;30(4):450-451

Division of Hematopathology, Department of Pathology (Krause, Baugh) and the Department of Hematology/Oncology (Swink, Burch), Baylor University Medical Center at Dallas and Baylor Sammons Cancer Center, Dallas, Texas.

A 56-year-old Texas rancher with a prior diagnosis of acquired erythropoietic protoporphyria secondary to an underlying myelodysplastic disorder developed an uncommon tumor, blastic plasmacytoid dendritic cell neoplasm (BPDCN). During his initial disease, analysis revealed a mutation, which is the most common mutation associated with BPDCN. This article discusses this unusual hematopoietic neoplasm, the possible evolution from erythropoietic protoporphyria, and the underlying myelodysplastic process. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595392PMC
October 2017
52 Reads

Perioperative Anesthetic Management of Patients Having Liver Transplantation for Uncommon Conditions.

Semin Cardiothorac Vasc Anesth 2018 Jun 18;22(2):197-210. Epub 2017 Sep 18.

1 Penn State Milton S Hershey Medical Center, Hershey, PA, USA.

This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Read More

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http://dx.doi.org/10.1177/1089253217732129DOI Listing
June 2018
11 Reads

Mutation in human elevates levels of aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.

Proc Natl Acad Sci U S A 2017 09 5;114(38):E8045-E8052. Epub 2017 Sep 5.

Division of Hematology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115;

Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier genes. We previously discovered that the mitochondrial AAA+ unfoldase ClpX promotes heme biosynthesis by activation of δ-aminolevulinate synthase (ALAS), which catalyzes the first step of heme synthesis. Read More

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http://dx.doi.org/10.1073/pnas.1700632114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617249PMC
September 2017
31 Reads

Porphyria.

N Engl J Med 2017 Aug;377(9):862-872

From the Department of Medicine, Division of Gastroenterology and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B.); the Departments of Preventive Medicine and Community Health and Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston (K.E.A.); and the Department of Gastroenterology, Wake Forest School of Medicine, Winston-Salem, NC (H.L.B.).

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http://dx.doi.org/10.1056/NEJMra1608634DOI Listing
August 2017
10 Reads

Osteoporosis in patients with erythropoietic protoporphyria.

Br J Dermatol 2017 12 22;177(6):1693-1698. Epub 2017 Nov 22.

Department of Internal Medicine, Porphyria Centre, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, PO Box 2040, 3000, CA Rotterdam, the Netherlands.

Background: Erythropoietic protoporphyria (EPP) is a rare metabolic disease with painful photosensitivity due to protoporphyrin IX accumulation.

Objectives: To evaluate bone mineral density (BMD) and known osteoporosis risk factors in patients with EPP.

Methods: Patients with EPP attending the Erasmus MC outpatient clinic who had undergone BMD measurements were included. Read More

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http://dx.doi.org/10.1111/bjd.15893DOI Listing
December 2017
20 Reads

Solar urticaria developing in patients with erythropoietic protoporphyria: a clue to the pathogenesis of solar urticaria?

Br J Dermatol 2018 02 20;178(2):567-568. Epub 2018 Jan 20.

Photodermatology Department, St John's Institute of Dermatology, Guy's Hospital, London, SE1 9RH, U.K.

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http://dx.doi.org/10.1111/bjd.15882DOI Listing
February 2018
6 Reads

Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury.

Clin J Gastroenterol 2017 Oct 4;10(5):452-458. Epub 2017 Jul 4.

Department of Internal Medicine, Division of Gastroenterology, Shinshu University School of Medicine, Matsumoto, Japan.

A 21-year-old Japanese man was admitted to our hospital because of severe abdominal pain and jaundice. He had been suffering from abdominal pain attacks and liver dysfunction since 18 years of age. Liver histology showed amorphous brown deposits in the sinusoidal space and significant periportal fibrosis without apparent hepatitis. Read More

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http://dx.doi.org/10.1007/s12328-017-0760-1DOI Listing
October 2017
22 Reads

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

JAMA Dermatol 2017 08;153(8):789-796

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.

Importance: Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype correlations of these diseases are not well characterized.

Objective: To describe the baseline clinical characteristics, genotypes, and determinants of disease severity in a large patient cohort with EPP or XLP. Read More

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http://dx.doi.org/10.1001/jamadermatol.2017.1557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710403PMC
August 2017
44 Reads

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria.

JAAD Case Rep 2017 May 13;3(3):169-171. Epub 2017 Apr 13.

Department of Dermatology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.

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http://dx.doi.org/10.1016/j.jdcr.2017.01.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392769PMC
May 2017
10 Reads

[Anesthetic Management under Spinal Anesthesia in a Patient with Erythropoietic Protoporphyria].

Masui 2017 03;66(3):320-321

Erythropoietic protoporphyria (EPP) is a hereditary disease resulting from a deficiency in ferrochelatase required for haem synthesis system. We describe the anesthetic management of a 51-year-old man with EPP undergoing open reduction and internal fixation of patella fracture. Spinal anesthesia was induced with bupivacaine. Read More

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